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Decreased function of survival motor neuron protein impairs endocytic pathways.
(NATL ACAD SCIENCES, 2016-07-26)
Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele. SMN is critical for the assembly of ...